CRYGB gene


Gene (OMIM No.)
Function of gene/protein
  • Protein: crystallin gamma B (CRYGB)
  • Lens-specific protein
  • Highly organized, compact structures that contribute to the refractive index of the lens
  • Interacts with other crystallins to maintain lens transparency
Clinical phenotype
(OMIM phenotype no.)
  • Cataract 39, multiple types, autosomal dominant (#615188)
  • Autosomal dominant
Ocular features
  • Congenital cataracts (nuclear, posterior polar, or lamellar)
  • Intrafamilial clinical heterogeneity observed
Systemic features
  • No extraocular features have been reported
Key investigations
  • B-scan USS to measure axial length to document microphthalmia and detect any posterior segment abnormalities
  • Electrophysiology
  • TORCH screen
  • Assessment with a paediatrician if suspicious of systemic involvement
Molecular diagnosisNext generation sequencing
  • Targeted gene panels (cataract)
  • Whole exome sequencing
  • Whole genome sequencing
Therapies under research
  • None at present
Further information

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  1.  AlFadhli S, Abdelmoaty S, Al-Hajeri A, Behbehani A, Alkuraya F. Novel crystallin gamma B mutations in a Kuwaiti family with autosomal dominant congenital cataracts reveal genetic and clinical heterogeneity. Mol Vis. 2012;18:2931‐2936
  2.  Li L, Chang B, Cheng C, et al. Dense nuclear cataract caused by the gammaB-crystallin S11R point mutation. Invest Ophthalmol Vis Sci. 2008;49(1):304‐309
  3.  Shiloh Y, Donlon T, Bruns G, Breitman ML, Tsui LC. Assignment of the human gamma-crystallin gene cluster (CRYG) to the long arm of chromosome 2, region q33-36. Hum Genet. 1986;73(1):17‐19

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Updated on November 30, 2020

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